Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Akr1c19'

701383

Institutional Source

Beutler Lab

Gene Symbol

Akr1c19

Ensembl Gene

ENSMUSG00000071551

Gene Name

aldo-keto reductase family 1, member C19

Synonyms

1810010N06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4283499-4298360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4292974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 243 (D243E)

Ref Sequence

ENSEMBL: ENSMUSP00000080074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081326] [ENSMUST00000118663] [ENSMUST00000129751]

AlphaFold

G3X9Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000081326
AA Change: D243E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: D243E

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	1.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118663
AA Change: D243E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: D243E

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	9.9e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129751

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,002 (GRCm39)	N132S	probably benign	Het
Agpat2	A	G	2: 26,483,601 (GRCm39)	*279Q	probably null	Het
Alg2	A	G	4: 47,474,001 (GRCm39)	F96L	probably benign	Het
Apob	C	T	12: 8,065,231 (GRCm39)	Q4067*	probably null	Het
C1ra	A	T	6: 124,489,580 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,703,199 (GRCm39)	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,576,221 (GRCm39)	V156A	probably benign	Het
Ces1g	A	G	8: 94,060,319 (GRCm39)	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113 (GRCm39)	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,211,094 (GRCm39)	A65T	probably benign	Het
Dcaf5	T	C	12: 80,386,563 (GRCm39)	D521G	probably benign	Het
Dnmt1	A	G	9: 20,833,408 (GRCm39)	F631L	possibly damaging	Het
Dok1	T	A	6: 83,008,893 (GRCm39)	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,081,112 (GRCm39)	F293L	probably benign	Het
Ehmt1	A	T	2: 24,738,077 (GRCm39)	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,231,556 (GRCm39)	V551E	possibly damaging	Het
Fig4	C	T	10: 41,153,478 (GRCm39)	V108I	probably benign	Het
Gpa33	A	G	1: 165,991,396 (GRCm39)	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,963,026 (GRCm39)	H52R		Het
Heatr9	A	T	11: 83,409,281 (GRCm39)	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,685,242 (GRCm39)	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Layn	A	G	9: 50,968,760 (GRCm39)	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mboat1	A	G	13: 30,410,392 (GRCm39)	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,736,226 (GRCm39)	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,485,167 (GRCm39)	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Or5p59	T	C	7: 107,703,256 (GRCm39)	S247P	probably damaging	Het
Or8c16	T	C	9: 38,130,706 (GRCm39)	Y193H	probably benign	Het
Ostm1	T	C	10: 42,574,210 (GRCm39)	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,577,608 (GRCm39)	D662V	probably damaging	Het
Pfpl	T	A	19: 12,406,374 (GRCm39)	S208R	probably damaging	Het
Plin5	A	T	17: 56,419,324 (GRCm39)	V366E	probably damaging	Het
Rmi1	A	G	13: 58,556,899 (GRCm39)	I383V	probably benign	Het
Rnh1	T	C	7: 140,740,714 (GRCm39)	T414A	probably benign	Het
Sash1	C	A	10: 8,617,296 (GRCm39)	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,370,551 (GRCm39)	N264S	probably benign	Het
Speg	A	C	1: 75,398,420 (GRCm39)	T1956P	probably damaging	Het
St14	T	C	9: 31,002,905 (GRCm39)	Y666C	probably damaging	Het
Stab2	T	A	10: 86,727,481 (GRCm39)	H1448L	probably damaging	Het
Syne2	C	T	12: 76,154,230 (GRCm39)		probably benign	Het
Taf9	T	A	13: 100,790,860 (GRCm39)		probably benign	Het
Thumpd2	G	A	17: 81,334,040 (GRCm39)	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,335,308 (GRCm39)	K797E	probably damaging	Het
Tpte	A	G	8: 22,841,489 (GRCm39)	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,567,113 (GRCm39)	L593Q	probably benign	Het
Uggt1	A	C	1: 36,249,103 (GRCm39)	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,804,084 (GRCm39)	F277S	probably damaging	Het
Vat1	A	T	11: 101,351,380 (GRCm39)	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,336,256 (GRCm39)	A592E		Het
Zfp780b	C	T	7: 27,673,143 (GRCm39)		probably null	Het
Zfp944	A	T	17: 22,562,619 (GRCm39)		probably null	Het
Zfp956	G	T	6: 47,934,437 (GRCm39)	G136W	possibly damaging	Het

Other mutations in Akr1c19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Akr1c19	APN	13	4,298,128 (GRCm39)	utr 3 prime	probably benign
IGL01522:Akr1c19	APN	13	4,289,098 (GRCm39)	splice site	probably benign
IGL01625:Akr1c19	APN	13	4,283,816 (GRCm39)	missense	probably damaging	1.00
IGL02863:Akr1c19	APN	13	4,287,112 (GRCm39)	nonsense	probably null
IGL03094:Akr1c19	APN	13	4,286,184 (GRCm39)	missense	probably benign	0.22
IGL03232:Akr1c19	APN	13	4,288,462 (GRCm39)	missense	probably damaging	0.96
R0504:Akr1c19	UTSW	13	4,286,250 (GRCm39)	missense	possibly damaging	0.83
R0538:Akr1c19	UTSW	13	4,287,099 (GRCm39)	missense	probably damaging	1.00
R0607:Akr1c19	UTSW	13	4,288,459 (GRCm39)	missense	probably benign	0.09
R2068:Akr1c19	UTSW	13	4,288,391 (GRCm39)	critical splice acceptor site	probably null
R3701:Akr1c19	UTSW	13	4,293,032 (GRCm39)	missense	probably damaging	1.00
R3893:Akr1c19	UTSW	13	4,288,441 (GRCm39)	missense	probably damaging	1.00
R4369:Akr1c19	UTSW	13	4,283,779 (GRCm39)	nonsense	probably null
R4434:Akr1c19	UTSW	13	4,292,615 (GRCm39)	missense	probably benign	0.28
R5545:Akr1c19	UTSW	13	4,292,594 (GRCm39)	missense	probably benign	0.01
R5584:Akr1c19	UTSW	13	4,293,031 (GRCm39)	missense	probably damaging	1.00
R6988:Akr1c19	UTSW	13	4,283,757 (GRCm39)	start gained	probably benign
R7286:Akr1c19	UTSW	13	4,296,818 (GRCm39)	missense	probably damaging	1.00
R7365:Akr1c19	UTSW	13	4,287,069 (GRCm39)	missense	probably benign	0.01
R7879:Akr1c19	UTSW	13	4,286,223 (GRCm39)	missense	probably damaging	1.00
R8177:Akr1c19	UTSW	13	4,292,591 (GRCm39)	missense	probably benign	0.01
R8868:Akr1c19	UTSW	13	4,293,070 (GRCm39)	missense	probably benign	0.00
R9447:Akr1c19	UTSW	13	4,296,838 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAAACACCAGTGCTGCTG -3'
(R):5'- GCCCTGAGAGATTTCAGAGAAG -3'

Sequencing Primer
(F):5'- CTCAGCTTGAACTGGCTTAGAGAG -3'
(R):5'- CATGTAGGAGGCCAATGT -3'

Posted On

2022-03-25